IL-1 R8 Antibody – Mouse Monoclonal

The protein encoded by this gene is a member of the interleukin 1 receptor family and is similar to the interleukin 1 accessory proteins. It is most closely related to interleukin 1 receptor accessory protein-like 2 (IL1RAPL2). This gene and IL1RAPL2 are located at a region on chromosome X that is associated with X-linked non-syndromic mental retardation. Deletions and mutations in this gene were found in patients with mental retardation. This gene is expressed at a high level in post-natal brain structures involved in the hippocampal memory system, which suggests a specialized role in the physiological processes underlying memory and learning abilities. [provided by RefSeq, Jul 2008]

Function: May regulate secretion and presynaptic differentiation through inhibition of the activity of N-type voltage-gated calcium channel. May activate the MAP kinase JNK. Plays a role in presynaptic and postsynaptic differentiation and dendritic spine formation in neurons. Ref.8 Ref.11

Subunit structure: Homodimer. Interacts (calcium-independent) with NCS1. Interacts (via extracellular region) with PTPRD; this interaction is required for IL1RAPL1-mediated synapse formation. Ref.8 Ref.11

Subcellular location: Cell membrane; Single-pass type I membrane protein. Cytoplasm. Cell projection › axon

By similarity. Cell projection › dendrite

By similarity. Note: May localize to the cell body and growth cones of dendrite-like processes

By similarity. Ref.8

Tissue specificity: Detected at low levels in heart, skeletal muscle, ovary, skin, amygdala, caudate nucleus, corpus callosum, hippocampus, substantia nigra and thalamus. Detected at very low levels in tonsil, prostate, testis, small intestine, placenta, colon and fetal liver. Ref.1 Ref.3

Involvement in disease: Mental retardation, X-linked 21 (MRX21) [MIM:300143]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2 Ref.9

Sequence similarities: Belongs to the interleukin-1 receptor family.Contains 3 Ig-like C2-type (immunoglobulin-like) domains.Contains 1 TIR domain.